Literature DB >> 3732312

Severe pulmonary arterial stenoses in Conradi-Hünermann disease.

E Trowitzsch, R Richter, W Eisenberg, H C Kallfelz.   

Abstract

A 5-month-old male infant with chondrodystrophia punctata type Conradi-Hünermann showed electrocardiographically an increasing right ventricular hypertrophy. Echocardiographically an enormous enlarged right ventricle with signs of supra-systemic pressure was found. No other intracardiac defects could be seen. Angiography showed severe peripheral pulmonary arterial stenoses of both main arteries. Balloon-dilatation or surgical intervention was supposed to have no beneficial effect. At the age of 6 months the patient died.

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Year:  1986        PMID： 3732312     DOI： 10.1007/bf00441869

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  8 in total

1.  THE ROENTGENOLOGIC FEATURES OF SINGLE AND MULTIPLE COARCTATIONS OF THE PULMONARY ARTERY AND BRANCHES.

Authors:  B B GAY; R H FRENCH; W H SHUFORD; J V ROGERS
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1963-09

2.  THE SYNDROME OF SUPRAVALVULAR AORTIC STENOSIS, PERIPHERAL PULMONARY STENOSIS, MENTAL RETARDATION AND SIMILAR FACIAL APPEARANCE.

Authors:  A J BEUREN; C SCHULZE; P EBERLE; D HARMJANZ; J APITZ
Journal:  Am J Cardiol       Date:  1964-04       Impact factor: 2.778

Review 3.  Cardiovascular disease in the rubella syndrome.

Authors:  R D Rowe
Journal:  Cardiovasc Clin       Date:  1973

4.  Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.

Authors:  J A Noonan
Journal:  Am J Dis Child       Date:  1968-10

5.  Heterogeneity of Chondrodysplasia punctata.

Authors:  J W Spranger; J M Opitz; U Bidder
Journal:  Humangenetik       Date:  1971

6.  Clinical and genetic aspects of Conradi-Hünermann disease. A report of three familial cases and review of the literature.

Authors:  M C Silengo; L Luzzatti; F N Silverman
Journal:  J Pediatr       Date:  1980-12       Impact factor: 4.406

7.  X-linked dominant chondrodysplasia punctata. Review of literature and report of a case.

Authors:  R Happle
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

8.  Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur.

Authors:  D Alagille; M Odièvre; M Gautier; J P Dommergues
Journal:  J Pediatr       Date:  1975-01       Impact factor: 4.406
  8 in total
  2 in total

Review 1.  Chondrodysplasia punctata: case report and literature review of patients with heart lesions.

Authors:  D T Fourie
Journal:  Pediatr Cardiol       Date:  1995 Sep-Oct       Impact factor: 1.655

Review 2.  The Keutel syndrome. Report of a case and review of the literature.

Authors:  F Ziereisen; C De Munter; N Perlmutter
Journal:  Pediatr Radiol       Date:  1993
  2 in total

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